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Ocul Immunol Inflamm ; 31(10): 1930-1943, 2023 Dec.
Article in English | MEDLINE | ID: mdl-38051595

ABSTRACT

Monogenic autoinflammatory syndromes (MAISs), are caused by pathogenic genetic variants in the innate immune system, leading to dysregulation and aberrant inflammasome activation spontaneously or with minimal triggering. The diagnosis and treatment of MAISs can be intricate, relying on an increased recognition of potential differential diagnoses. This review examines the clinical features of MAIS, with a special focus on uveitis. It also evaluates treatment options and assesses the effects of activating molecular and cytokine pathways.


Subject(s)
Hereditary Autoinflammatory Diseases , Uveitis , Child , Humans , Hereditary Autoinflammatory Diseases/diagnosis , Hereditary Autoinflammatory Diseases/genetics , Cytokines , Uveitis/diagnosis , Uveitis/genetics , Inflammasomes/genetics , Inflammation/diagnosis
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